Immunodeficiency, and Hypopigmentation of the skin

Diseases related with Immunodeficiency and Hypopigmentation of the skin

In the following list you will find some of the most common rare diseases related to Immunodeficiency and Hypopigmentation of the skin that can help you solving undiagnosed cases.

Top matches:

Low match CHILBLAIN LUPUS

Chilblain lupus is a cutaneous form of systemic lupus erythematosus (SLE ) characterized by the appearance of painful bluish-red papular or nodular lesions of the skin in acral locations (including the dorsal aspects of fingers and toes, heels, nose, cheeks, ears, and, in some cases, knees) precipitated by cold and wet exposure (summary by Lee-Kirsch et al., 2006). Genetic Heterogeneity of Chilblain LupusSee also CHBL2 (OMIM ), caused by mutation in the SAMHD1 gene (OMIM ) on chromosome 20q11.Mutations in the TREX1 and SAMHD1 genes also cause Aicardi-Goutieres syndrome (AGS1, {225750} and AGS5, {612952}, respectively).

Related symptoms:

  • Immunodeficiency
  • Recurrent infections
  • Arthralgia
  • Abnormality of skin pigmentation
  • Hypopigmentation of the skin


SOURCES: ORPHANET OMIM MENDELIAN

More info about CHILBLAIN LUPUS

Primary immunodeficiency syndrome due to p14 deficiency is characterised by short stature, hypopigmentation, coarse facies and frequent bronchopulmonary Streptococcus pneumoniae infections.

PRIMARY IMMUNODEFICIENCY SYNDROME DUE TO P14 DEFICIENCY Is also known as primary immunodeficiency syndrome with short stature

Related symptoms:

  • Short stature
  • Immunodeficiency
  • Coarse facial features
  • Neutropenia
  • Hypopigmentation of the skin


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PRIMARY IMMUNODEFICIENCY SYNDROME DUE TO P14 DEFICIENCY

Nijmegen breakage syndrome-like disorder is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by growth retardation, short stature, developmental delay, intellectual disability, craniofacial dysmorphism (i.e. severe microcephaly, sloping forehead, prominent eyes, broad nasal ridge, hypoplastic nasal septum, epicanthal folds), spontaneous chromosomal instability, cellular hypersensitivity to ionizing radiation and radioresistant DNA synthesis, without severe infections, immunodeficiency or cancer predisposition. Additional reported features include mild spasticity, slight and nonprogressive ataxia, hyperopia, multiple pigmented nevi, widely spaced nipples, and clinodactyly.

NIJMEGEN BREAKAGE SYNDROME-LIKE DISORDER Is also known as microcephaly and chromosomal instability without immunodeficiency|nbsld|microcephaly and spontaneous chromosome instability without immunodeficiency|nbs-like disorder|rad50 deficiency

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Ataxia
  • Spasticity


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about NIJMEGEN BREAKAGE SYNDROME-LIKE DISORDER

Other less relevant matches:

Attenuated Chédiak-Higashi syndrome (CHS) is a very rare and atypical form of CHS (see this term), a genetic disorder characterized by partial oculocutaneous albinism (OCA, see this term), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder.

ATTENUATED CHÉDIAK-HIGASHI SYNDROME Is also known as atypical chÉdiak-higashi syndrome

Related symptoms:

  • Intellectual disability
  • Peripheral neuropathy
  • Hypertonia
  • Immunodeficiency
  • Recurrent respiratory infections


SOURCES: ORPHANET MENDELIAN

More info about ATTENUATED CHÉDIAK-HIGASHI SYNDROME

A rare, autosomal recessive genetic syndrome caused by mutations in the RAB27A gene. It is characterized by hypopigmentation of the skin, hair and eyes, recurrent infections, neutropenia, and immune system abnormalities. Patients are prone to develop hemophagocytic lymphohistiocytosis.

GRISCELLI SYNDROME TYPE 2 Is also known as hypopigmentation-immunodeficiency with or without neurologic impairment syndrome|griscelli-pruniÉras syndrome type 2

Related symptoms:

  • Seizures
  • Hepatomegaly
  • Fever
  • Hypertonia
  • Splenomegaly


SOURCES: ORPHANET MENDELIAN

More info about GRISCELLI SYNDROME TYPE 2

Hermansky-Pudlak syndrome-10 is an autosomal recessive multisystem disorder characterized by infantile onset of immunodeficiency, oculocutaneous albinism, and severe neurologic impairment, including severely delayed global development and intractable seizures (summary by Ammann et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of Hermansky-Pudlak syndrome, see HPS1 (OMIM ).

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Nystagmus
  • Low-set ears


SOURCES: OMIM MENDELIAN

More info about HERMANSKY-PUDLAK SYNDROME 10; HPS10

Hermansky-Pudlak syndrome type 2 (HPS-2) is a type of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and neutropenia.

HERMANSKY-PUDLAK SYNDROME WITH NEUTROPENIA Is also known as hps2|hermansky-pudlak syndrome type 2

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Nystagmus


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about HERMANSKY-PUDLAK SYNDROME WITH NEUTROPENIA

Zur Stadt et al. (2005) summarized the clinical features of hemophagocytic lymphohistiocytosis (HLH), a rare autosomal recessive disorder characterized by massive infiltration of several organs by activated lymphocytes and macrophages. The clinical features of the disease include fever, hepatosplenomegaly, cytopenia, and less frequently central nervous system involvement. In FHL, the familial form of the disease, first episodes occur mostly during infancy, with a rapidly fatal outcome if untreated. Diagnostic criteria also include low fibrinogen and high triglyceride and ferritin levels. Chemoimmunotherapy based on corticosteroids, epipodophyllotoxins, and cyclosporin succeeds in controlling the disease in the majority of patients, although remission is rarely obtained (Henter et al., 2002). Most patients suffer an early death unless they are treated by hematopoietic stem cell transplantation (Durken et al., 1999). Genetic Heterogeneity of Familial Hemophagocytic LymphohistiocytosisFamilial hemophagocytic lymphohistiocytosis exhibits genetic heterogeneity. In some families, familial hemophagocytic lymphohistiocytosis has been found to be linked to chromosome 9q (HPLH1, FHL1). FHL2 (OMIM ) is caused by mutation in the PRF1 gene (OMIM ) on chromosome 10q22; FHL3 (OMIM ) is caused by mutation in the UNC13D gene (OMIM ) on chromosome 17q25; FHL4 (OMIM ) is caused by mutation in the syntaxin-11 gene (STX11 ) on chromosome 6q24; and FHL5 (OMIM ) is caused by mutation in the syntaxin-binding protein-2 (STXBP2 ), which is an interaction partner of STX11, on chromosome 19p13.Furthermore, before the identification of mutations in the RAG1 (OMIM ) and RAG2 (OMIM ) genes, both of which map to 11p, Omenn syndrome (familial reticuloendotheliosis with eosinophilia; {603554}) was not thought to be clearly distinct from other reported cases of hemophagocytic lymphohistiocytosis.

HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 1; FHL1 Is also known as hemophagocytic reticulosis, familial|hlh1|hemophagocytic lymphohistiocytosis, familial|erythrophagocytic lymphohistiocytosis, familial|reticulosis, familial histiocytic|hplh1|fhl|fhlh|hplh|fel

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Neoplasm


SOURCES: OMIM MENDELIAN

More info about HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 1; FHL1

GRISCELLI SYNDROME, TYPE 2; GS2 Is also known as partial albinism and immunodeficiency syndrome|griscelli syndrome with hemophagocytic syndrome|paid syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Ataxia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about GRISCELLI SYNDROME, TYPE 2; GS2

Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) is an immunoosseous dysplasia combining the typical metaphyseal and vertebral bone lesions of spondyloenchondrodysplasia (SPENCD) with immune dysfunction and neurologic involvement. The skeletal dysplasia is characterized by radiolucent and irregular spondylar and metaphyseal lesions that represent islands of chondroid tissue within bone. The vertebral bodies show dorsally accentuated platyspondyly with disturbance of ossification. Clinical abnormalities such as short stature, rhizomelic micromelia, increased lumbar lordosis, barrel chest, facial anomalies, and clumsy movements may be present (Menger et al., 1989). Central nervous system involvement includes spasticity, mental retardation, and cerebral calcifications, and immune dysregulation ranges from autoimmunity to immunodeficiency. Neurologic and autoimmune manifestations have been observed in different combinations within a single family, suggesting that this disorder may be defined by specific radiographic features but has remarkably pleiotropic manifestations (Renella et al., 2006). Briggs et al. (2016) also noted variability in skeletal, neurologic, and immune phenotypes, which was sometimes marked between members of the same family. Classification of the EnchondromatosesIn their classification of the enchondromatoses, Spranger et al. (1978) called Ollier disease and Maffucci syndrome types I and II enchondromatosis, respectively; metachondromatosis (OMIM ), type III; and spondyloenchondrodysplasia (SPENCD), also called spondyloenchondromatosis, type IV; enchondromatosis with irregular vertebral lesions, type V; and generalized enchondromatosis, type VI. Halal and Azouz (1991) added 3 tentative categories to the 6 in the classification of Spranger et al. (1978).Pansuriya et al. (2010) suggested a new classification of enchondromatosis (multiple enchondromas).

SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION; SPENCDI Is also known as spencd|combined immunodeficiency with autoimmunity and spondylometaphyseal dysplasia|roifman immunoskeletal syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Spasticity
  • Low-set ears


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION; SPENCDI

Top 5 symptoms//phenotypes associated to Immunodeficiency and Hypopigmentation of the skin

Symptoms // Phenotype % cases
Recurrent infections Common - Between 50% and 80% cases
Neutropenia Uncommon - Between 30% and 50% cases
Splenomegaly Uncommon - Between 30% and 50% cases
Hepatomegaly Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Immunodeficiency and Hypopigmentation of the skin. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Thrombocytopenia Global developmental delay Hepatosplenomegaly Lymphadenopathy Seizures Recurrent respiratory infections Partial albinism Albinism Short stature Pulmonary infiltrates Pancytopenia Hemophagocytosis Fever Jaundice Hypertonia Ocular albinism Recurrent bacterial infections Spasticity Ataxia Microcephaly Pneumonia Low-set ears Nystagmus

Rare Symptoms - Less than 30% cases

Retrognathia Smooth philtrum Hypopigmentation of hair Intellectual disability, mild Respiratory tract infection Abnormality of the nervous system Coarse facial features Granulocytopenia Muscular hypotonia Hepatitis Arthralgia Hemolytic anemia Tetraplegia Sepsis Peripheral demyelination Purpura Leukopenia Encephalitis Combined immunodeficiency Cellular immunodeficiency Anemia Generalized edema Generalized hypotonia Petechiae Iris hypopigmentation Premature graying of hair Hyperlipidemia Abnormality of movement Skin ulcer Systemic lupus erythematosus Nausea and vomiting Ascites Irregular vertebral endplates Decrease in T cell count Vomiting Rigidity Vitiligo Lethargy Autoimmune thrombocytopenia Abnormal cerebellum morphology Decreased antibody level in blood Progressive neurologic deterioration Recurrent sinusitis Autoimmune hemolytic anemia Encephalocele Bone marrow hypocellularity Cranial nerve paralysis Edema Abnormal natural killer cell physiology Hydrocephalus Increased VLDL cholesterol concentration Decreased HDL cholesterol concentration Prolonged prothrombin time Spondylometaphyseal dysplasia Histiocytosis Immune dysregulation Increased LDL cholesterol concentration Increased total bilirubin T-cell lymphoma Tubulointerstitial fibrosis Narrow nose Hypofibrinogenemia CSF pleocytosis Juvenile rheumatoid arthritis Barrel-shaped chest Polyneuritis Plasmacytosis Lipogranulomatosis Hypopigmented skin patches Reduced tendon reflexes Abnormal eyebrow morphology Basal ganglia calcification Lumbar hyperlordosis Progressive spastic quadriplegia Platyspondyly Abnormality of the cerebral white matter Micromelia Prolonged partial thromboplastin time Cerebral calcification Spastic tetraplegia Recurrent otitis media Hyperlordosis Abnormal lung morphology Rhizomelia Nephritis Metaphyseal sclerosis Rheumatoid arthritis Metaphyseal irregularity Spastic diplegia Restrictive ventilatory defect Autoimmunity Skeletal dysplasia Pyloric stenosis Cutaneous anergy Abnormality of lipid metabolism Abnormal eyelash morphology Edema of the lower limbs Scleroderma White hair Abnormality of neutrophils Hypermelanotic macule Reduced delayed hypersensitivity Silver-gray hair Kyphoscoliosis Melanin pigment aggregation in hair shafts Accumulation of melanosomes in melanocytes Abnormality of the skeletal system Arthralgia/arthritis Diarrhea Madelung deformity Severe short stature Hypothyroidism Arthritis Confusion Hypoproteinemia Interstitial pulmonary abnormality Macrotia EEG abnormality Muscular hypotonia of the trunk Generalized tonic-clonic seizures Generalized myoclonic seizures Abnormal bleeding Delayed myelination Hypotelorism Arachnoid cyst Dystonia Pierre-Robin sequence Hearing impairment Strabismus Abnormal facial shape Visual impairment Motor delay Epicanthus Wide nasal bridge Cerebral atrophy Feeding difficulties Posteriorly rotated ears Hypermetropia Abnormality of skin pigmentation Cutaneous photosensitivity Abnormality of the nail Dermal atrophy Raynaud phenomenon Antinuclear antibody positivity IgM deficiency Recurrent bronchopulmonary infections Telangiectasia Generalized hypopigmentation Chromosomal breakage induced by ionizing radiation Peripheral neuropathy Bruising susceptibility Abnormality of extrapyramidal motor function Epistaxis Incoordination Abnormality of coagulation Gingival bleeding Long philtrum Upslanted palpebral fissure Acute leukemia Eosinophilia Coma Gliosis Lymphoma Hypertriglyceridemia Aspiration Meningitis Hyperbilirubinemia Increased intracranial pressure Hypoalbuminemia Leukemia Hemiplegia Hyponatremia Abnormality of the coagulation cascade Increased antibody level in blood Episodic fever Severe combined immunodeficiency Increased CSF protein Increased serum ferritin Hepatic failure Skin rash Reduced visual acuity Acetabular dysplasia Thin upper lip vermilion Photophobia Conductive hearing impairment Carious teeth Hip dysplasia Pulmonary fibrosis Periodontitis Fair hair Interstitial pneumonitis Abnormality of the liver Congenital neutropenia Intermittent thrombocytopenia Aberrant melanosome maturation Neoplasm Failure to thrive Encephalopathy Elevated hepatic transaminase Irritability Hypopigmented skin patches on arms


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