Anemia, and Bronchiectasis

Diseases related with Anemia and Bronchiectasis

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


Top matches:

Medium match IMMUNODEFICIENCY WITHOUT ANHIDROTIC ECTODERMAL DYSPLASIA


IMMUNODEFICIENCY WITHOUT ANHIDROTIC ECTODERMAL DYSPLASIA Is also known as immunodeficiency, isolated|immunodeficiency, pure

Related symptoms:

  • Anemia
  • Immunodeficiency
  • Pneumonia
  • Hemolytic anemia
  • Sepsis


SOURCES: OMIM MESH MENDELIAN

More info about IMMUNODEFICIENCY WITHOUT ANHIDROTIC ECTODERMAL DYSPLASIA

Medium match SEVERE COMBINED IMMUNODEFICIENCY DUE TO CORO1A DEFICIENCY


SEVERE COMBINED IMMUNODEFICIENCY DUE TO CORO1A DEFICIENCY Is also known as severe combined immunodeficiency due to coronin-1a deficiency|scid due to coro1a deficiency|scid due to coronin-1a deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Anemia
  • Immunodeficiency
  • Recurrent infections


SOURCES: ORPHANET OMIM MENDELIAN

More info about SEVERE COMBINED IMMUNODEFICIENCY DUE TO CORO1A DEFICIENCY

Medium match X-LINKED HYPER-IGM SYNDROME


Hyper-IgM syndrome is a condition characterized by normal or increased serum IgM concentrations associated with low or absent serum IgG, IgA, and IgE concentrations, indicating a defect in the class-switch recombination (CSR) process (summary by Imai et al., 2003).For a discussion of genetic heterogeneity of immunodeficiency with hyper-IgM, see HIGM1 (OMIM ).

X-LINKED HYPER-IGM SYNDROME Is also known as hyper-igm syndrome 4|hyper-igm syndrome type 1|hyper-igm syndrome due to cd40l deficiency|higm1|xhigm|hyper-igm syndrome due to cd40 ligand deficiency

Related symptoms:

  • Immunodeficiency
  • Bronchiectasis
  • Recurrent bacterial infections
  • Recurrent upper respiratory tract infections
  • Myelodysplasia


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED HYPER-IGM SYNDROME

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Other less relevant matches:

Medium match SEVERE COMBINED IMMUNODEFICIENCY DUE TO LAT DEFICIENCY


IMD52 is an autosomal recessive primary immunodeficiency with variable manifestations, including severe combined immunodeficiency, hematologic autoimmune disorders, progressive lymphopenia and hypogammaglobulinemia, and lymphoproliferation with splenomegaly. Patients develop severe recurrent infections from infancy, and most die without bone marrow transplantation. The variable clinical features result from a defect in T-cell receptor signaling (summary by Keller et al., 2016 and Bacchelli et al., 2017).

SEVERE COMBINED IMMUNODEFICIENCY DUE TO LAT DEFICIENCY Is also known as scid due to lat deficiency

Related symptoms:

  • Failure to thrive
  • Anemia
  • Splenomegaly
  • Immunodeficiency
  • Recurrent infections


SOURCES: OMIM ORPHANET MENDELIAN

More info about SEVERE COMBINED IMMUNODEFICIENCY DUE TO LAT DEFICIENCY

Medium match CHRONIC EPSTEIN-BARR VIRUS INFECTION SYNDROME


Chronic Epstein-Barr virus infection syndrome is a rare infectious disease characterized by familial, primary, chronic Epstein-Barr virus infection which typically manifests with persistent mononucleosis-like signs and symptoms, in the absence of secondary immunodeficiency.

CHRONIC EPSTEIN-BARR VIRUS INFECTION SYNDROME Is also known as irf8 deficiency, autosomal recessive|epstein-barr virus, susceptibility to chronic infection by|immunodeficiency 32b, monocyte, dendritic cell, and natural killer cell deficiency, autosomal recessive|caebv syndrome|chronic ebv infection syndrome

Related symptoms:

  • Global developmental delay
  • Neoplasm
  • Failure to thrive
  • Anemia
  • Hepatomegaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about CHRONIC EPSTEIN-BARR VIRUS INFECTION SYNDROME

Medium match COMBINED IMMUNODEFICIENCY DUE TO GINS1 DEFICIENCY


Immunodeficiency-55 is an autosomal recessive primary immunodeficiency characterized by intrauterine growth retardation, natural killer (NK) cell deficiency, and chronic neutropenia. Most patients also have postnatal growth retardation. Other clinical manifestations include mild facial dysmorphism, dry or eczematous skin, and recurrent infections with both viruses and bacteria. The disorder appears to result from a defect in DNA replication causing blockade of immune cell differentiation in the bone marrow, particularly affecting NK cells (summary by Cottineau et al., 2017).

COMBINED IMMUNODEFICIENCY DUE TO GINS1 DEFICIENCY Is also known as cid due to gins1 deficiency|combined immunodeficiency with intrauterine growth retardation-natural killer cell deficiency-neutropenia|combined immunodeficiency with intrauterine growth retardation-nk cell deficiency-neutropenia

Related symptoms:

  • Growth delay
  • Abnormal facial shape
  • Anemia
  • Intrauterine growth retardation
  • Blindness


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED IMMUNODEFICIENCY DUE TO GINS1 DEFICIENCY

Medium match X-LINKED LYMPHOPROLIFERATIVE DISEASE


X-linked lymphoproliferative disease is a hereditary immunodeficiency characterized, in the majority of cases, by an inadequate immune response to infection with the Epstein-Barr virus (EBV).

X-LINKED LYMPHOPROLIFERATIVE DISEASE Is also known as xlpd|duncan disease|xlp|immunodeficiency 5|infectious mononucleosis, severe, susceptibility to|purtilo syndrome|imd5|ebvs|lymphoproliferative disease, x-linked|epstein-barr virus infection, familial fatal|lyp|ebv infection, severe, susceptibility to|immun

Related symptoms:

  • Seizures
  • Neoplasm
  • Anemia
  • Hepatomegaly
  • Fever


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED LYMPHOPROLIFERATIVE DISEASE

Medium match COMMON VARIABLE IMMUNODEFICIENCY


Common variable immunodeficiency (CVID) comprises a heterogeneous group of diseases characterized by a significant hypogammaglobulinemia of unknown cause, failure to produce specific antibodies after immunizations and susceptibility to bacterial infections, predominantly caused by encapsulated bacteria.

COMMON VARIABLE IMMUNODEFICIENCY Is also known as primary antibody deficiency|cvid|antibody deficiency due to icos defect|idiopathic immunoglobulin deficiency|primary hypogammaglobulinemia

Related symptoms:

  • Hepatomegaly
  • Diarrhea
  • Splenomegaly
  • Immunodeficiency
  • Recurrent infections


SOURCES: ORPHANET OMIM MENDELIAN

More info about COMMON VARIABLE IMMUNODEFICIENCY

Medium match ICF SYNDROME


The Immunodeficiency, Centromeric region instability, Facial anomalies syndrome (ICF) is a rare autosomal recessive disease characterized by immunodeficiency, although B cells are present, and by characteristic rearrangements in the vicinity of the centromeres (the juxtacentromeric heterochromatin) of chromosomes 1 and 16 and sometimes 9.

ICF SYNDROME Is also known as centromeric instability, immunodeficiency syndrome|immune deficiency, variable, with centromeric instability of chromosomes 1, 9, and 16|ciid|immunodeficiency-centromeric instability-facial anomalies syndrome|immunodeficiency syndrome, variable

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about ICF SYNDROME

Medium match PGM3-CDG


PGM3-CDG is a rare congenital disorder of glycosylation caused by mutations in the PGM3 gene and characterized by neonatal to childhood onset of recurrent bacterial and viral infections, inflammatory skin diseases, atopic dermatitis and atopic diatheses, and marked serum IgE elevation. Early neurologic impairment is evident including developmental delay, intellectual disability, ataxia, dysarthria, sensorineural hearing loss, myoclonus and seizures.

PGM3-CDG Is also known as cid due to pgm3 deficiency|immunodeficiency with hyper ige and cognitive impairment|pgm3-related congenital disorder of glycosylation|combined immunodeficiency due to pgm3 deficiency|immunodeficiency-vasculitis-myoclonus syndrome|ivms

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM ORPHANET MENDELIAN

More info about PGM3-CDG

Top 5 symptoms//phenotypes associated to Anemia and Bronchiectasis

Symptoms // Phenotype % cases
Immunodeficiency Very Common - Between 80% and 100% cases
Recurrent infections Common - Between 50% and 80% cases
Pneumonia Common - Between 50% and 80% cases
Lymphopenia Common - Between 50% and 80% cases
Lymphadenopathy Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Anemia and Bronchiectasis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Hemolytic anemia Respiratory tract infection Lymphoma Recurrent respiratory infections Decreased antibody level in blood Autoimmune hemolytic anemia Splenomegaly Failure to thrive Recurrent pneumonia Global developmental delay Diarrhea Sinusitis Abnormal facial shape Neutropenia Thrombocytopenia Hepatomegaly Respiratory failure Vasculitis Combined immunodeficiency Seizures IgG deficiency

Rare Symptoms - Less than 30% cases


Atopic dermatitis Autoimmune neutropenia Severe combined immunodeficiency Otitis media Immune dysregulation Neoplasm Bronchitis Impaired T cell function Fever Dilatation Intellectual disability Recurrent skin infections Short stature Recurrent sinusitis Cellular immunodeficiency Agammaglobulinemia Eczema Inflammatory abnormality of the skin Abnormal intestine morphology Increased antibody level in blood Hepatic failure Myelodysplasia Hodgkin lymphoma Recurrent bacterial infections Lymphoproliferative disorder Increased IgM level Autoimmune thrombocytopenia Recurrent infection of the gastrointestinal tract IgA deficiency Hepatosplenomegaly Autoimmunity Abnormal lung morphology Sepsis B-cell lymphoma Hypospadias Malar flattening Leukopenia Low-set ears Short nose Anteverted nares Glomerulonephritis Macrocephaly Epicanthus Depressed nasal bridge Abnormality of the skeletal system Cryptorchidism Micrognathia Hypertelorism Allergic rhinitis Umbilical hernia Membranoproliferative glomerulonephritis Posterior pharyngeal cleft Humoral immunodeficiency Gastrointestinal stroma tumor B lymphocytopenia IgM deficiency Recurrent bronchitis Vasculitis in the skin Restrictive ventilatory defect High forehead Malnutrition Malabsorption Generalized hypotonia Brachydactyly Myoclonus Dysarthria Gastroesophageal reflux Conductive hearing impairment High palate Chronic otitis media Cognitive impairment Sensorineural hearing impairment Abnormality of the nervous system Ataxia Scoliosis Hearing impairment Abnormality of neutrophils Flat face Decrease in T cell count Abnormality of chromosome stability Erythema Asthma Sensory impairment Narrow palpebral fissure Chronic bronchitis Communicating hydrocephalus Shawl scrotum Protruding tongue Hyporeflexia Macroglossia Neurodegeneration Emphysema Encephalitis Failure to thrive in infancy Chronic lung disease Severe intrauterine growth retardation Erythroderma Ichthyosis Dry skin Postnatal growth retardation Hypothyroidism Glaucoma Blindness Intrauterine growth retardation Growth delay Chronic infection Skin rash Fatigue Cerebral palsy Protein-losing enteropathy Leukoencephalopathy Recurrent urinary tract infections Impaired Ig class switch recombination Absence of lymph node germinal center Osteomyelitis Recurrent upper respiratory tract infections Decreased proportion of CD4-positive T cells Papilloma Recurrent sinopulmonary infections Attention deficit hyperactivity disorder Hyperactivity Recurrent mycobacterium avium complex infections Impaired memory B cell generation Ectodermal dysplasia Osteosarcoma Folliculitis Purpura Pure red cell aplasia Conjunctivitis Recurrent otitis media Anal atresia Abnormality of the liver Elevated hepatic transaminase Arthralgia Brachycephaly Fulminant hepatitis Reduced natural killer cell activity Pharyngitis Non-Hodgkin lymphoma Burkitt lymphoma Hepatic necrosis Dysgammaglobulinemia Erythroid dysplasia Chorioretinitis Granulomatosis Hepatic encephalopathy Histiocytosis Lymphocytosis Recurrent pharyngitis Aplastic anemia Sarcoma Bone marrow hypocellularity Meningitis Hemiparesis Pancytopenia Memory impairment Falls Cortical myoclonus



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