Immunodeficiency, and Pancytopenia

Diseases related with Immunodeficiency and Pancytopenia

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

Top matches:

Combined immunodeficiency due to OX40 deficiency is a rare combined T and B cell immunodeficiency characterized by susceptibility to develop an aggressive, childhood-onset, disseminated, cutaneous and systemic Kaposi sarcoma.

COMBINED IMMUNODEFICIENCY DUE TO OX40 DEFICIENCY Is also known as combined immunodeficiency with childhood-onset kaposi sarcoma|combined immunodeficiency with impaired immunity to human herpes virus 8|combined immunodeficiency with impaired immunity to hhv-8|ox40 deficiency

Related symptoms:

  • Splenomegaly
  • Immunodeficiency
  • Respiratory tract infection
  • Pancytopenia
  • Sarcoma


SOURCES: ORPHANET OMIM MENDELIAN

More info about COMBINED IMMUNODEFICIENCY DUE TO OX40 DEFICIENCY

Pancytopenia due to IKZF1 mutations is a rare syndrome with combined immunodeficiency characterized by a variable clinical presentation ranging from asymptomatic individuals to potentially life-threatening, recurrent bacterial infections associated with progressive loss of serum immunoglobulins and B cells.

PANCYTOPENIA DUE TO IKZF1 MUTATIONS Is also known as cid due to ikaros deficiency|combined immunodeficiency due to ikaros deficiency

Related symptoms:

  • Anemia
  • Edema
  • Immunodeficiency
  • Recurrent infections
  • Thrombocytopenia


SOURCES: OMIM ORPHANET MENDELIAN

More info about PANCYTOPENIA DUE TO IKZF1 MUTATIONS

Lymphoproliferative syndrome-2, also known as CD27 deficiency, is an autosomal recessive immunodeficiency disorder associated with persistent symptomatic EBV viremia, hypogammaglobulinemia, and impairment in specific antibody function resulting from impaired T cell-dependent B-cell responses and T-cell dysfunction (summary by van Montfrans et al., 2012). The phenotype can vary significantly, from asymptomatic borderline-low hypogammaglobulinemia, to a full-blown symptomatic systemic inflammatory response with life-threatening EBV-related complications, including hemophagocytic lymphohistiocytosis, a lymphoproliferative disorder, and malignant lymphoma requiring stem cell transplantation (summary by Salzer et al., 2013).For a discussion of genetic heterogeneity of lymphoproliferative syndrome, see XLP1 (OMIM ).

LYMPHOPROLIFERATIVE SYNDROME 2; LPFS2 Is also known as cd27 deficiency

Related symptoms:

  • Neoplasm
  • Anemia
  • Hepatomegaly
  • Fever
  • Splenomegaly


SOURCES: OMIM MENDELIAN

More info about LYMPHOPROLIFERATIVE SYNDROME 2; LPFS2

Other less relevant matches:

T-B+ SEVERE COMBINED IMMUNODEFICIENCY DUE TO IL-7RALPHA DEFICIENCY Is also known as scid, autosomal recessive, t cell-negative, b cell-positive, nk cell-positive|t-b+ scid due to il-7ralpha deficiency

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Hepatomegaly
  • Fever
  • Diarrhea


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about T-B+ SEVERE COMBINED IMMUNODEFICIENCY DUE TO IL-7RALPHA DEFICIENCY

Lymphoproliferative syndrome-1 is an autosomal recessive primary immunodeficiency characterized by onset in early childhood of Epstein-Barr virus (EBV)-associated immune dysregulation, manifest as lymphoma, lymphomatoid granulomatosis, hemophagocytic lymphohistiocytosis, Hodgkin disease, and/or hypogammaglobulinemia. Autoimmune disorders, such as autoimmune hemolytic anemia or renal disease, may also occur. Patients show a high EBV viral load and decreased invariant natural killer T cells. It is unknown whether patients with ITK mutations are intrinsically susceptible to development of lymphoma or dysgammaglobulinemia in the absence of EBV infection (summary by Stepensky et al., 2011; Linka et al., 2012).For a discussion of genetic heterogeneity of lymphoproliferative syndrome, see XLP1 (OMIM ).

Related symptoms:

  • Anemia
  • Hepatomegaly
  • Fever
  • Splenomegaly
  • Immunodeficiency


SOURCES: OMIM MESH MENDELIAN

More info about LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1

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-pruni√Čras syndrome type 2

Related symptoms:

  • Seizures
  • Hepatomegaly
  • Fever
  • Hypertonia
  • Splenomegaly


SOURCES: ORPHANET MENDELIAN

More info about GRISCELLI SYNDROME TYPE 2

A rare, genetic, neurological disease characterized by association of macrocephaly, dysmorphic facial features and psychomotor delay leading to intellectual disability and autism spectrum disorder. Facial dysmorphism may include frontal bossing, hypertelorism, midface hypoplasia, depressed nasal bridge, short nose, and long philtrum.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hypertelorism
  • Neoplasm
  • Depressed nasal bridge


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MACROCEPHALY-INTELLECTUAL DISABILITY-AUTISM SYNDROME

XLP2 is an X-linked primary immune deficiency with symptom onset usually in the first years of life, although later onset may occur. Features are compatible with immune dysregulation and include hemophagocytic lymphohistiocytosis (HLH), often associated with chronic Epstein-Barr virus (EBV) infection, splenomegaly, fever, colitis or inflammatory bowel disease (IBD), and recurrent infections. Laboratory abnormalities are variable, but can include hypogammaglobulinemia, cytopenias, and low levels of a particular subset of T cells known as NKT (or iNKT) cells. Functional studies show increased sensitivity of T cells to apoptosis (activation-induced cell death, AICD), impaired cytokine production, including of TNF-alpha (TNFA ), and general dysregulation of the immune pathway, such as increased levels of IL18 (OMIM ). However, circulating levels of lymphocytes and NK cells are usually normal. Many patients die from fulminant HLH, and the only curative treatment is a hematopoietic stem cell transplant, although this procedure has been associated with a poor prognosis. Female mutation carriers are usually asymptomatic, although some female carriers may have less severe manifestations, which appears to depend on X-inactivation patterns (summary by Yang et al., 2012; review by Latour and Aguilar, 2015).Latour and Aguilar (2015) provided a detailed review of XIAP deficiency, including clinical features, molecular genetics, and pathophysiology.For a general phenotypic description and a discussion of genetic heterogeneity of X-linked lymphoproliferative syndrome, see XLP1 (OMIM ).

LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 2; XLP2 Is also known as xiap deficiency

Related symptoms:

  • Anemia
  • Fever
  • Splenomegaly
  • Immunodeficiency
  • Recurrent infections


SOURCES: OMIM MENDELIAN

More info about LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 2; XLP2

Monocytopenia with susceptibility to infections is a rare, genetic, primary immunodeficiency disorder characterized by profound circulating monocytopenia, B- and NK-cell lymphopenia and severe dentritic cell decrease, which manifests clinically with disseminated mycobacterial and viral infections, as well as opportunistic fungal and parasitic infections and frequent pulmonary alveolar proteinosis. Predisposition to developping myeloid neoplasms is associated.

MONOCYTOPENIA WITH SUSCEPTIBILITY TO INFECTIONS Is also known as dendritic cell, monocyte, b and nk lymphoid deficiency|dcml|dendritic cell, monocyte, b lymphocyte, and natural killer lymphocyte deficiency|monocytopenia with susceptibility to mycobacterial, fungal, and papillomavirus infections and myelodysplasia|monoc

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Anemia
  • Hypertension
  • Immunodeficiency


SOURCES: OMIM ORPHANET MENDELIAN

More info about MONOCYTOPENIA WITH SUSCEPTIBILITY TO INFECTIONS

Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia is an inborn error of folate metabolism due to deficiency of methylenetetrahydrofolate dehydrogenase-1. Manifestations may include hemolytic uremic syndrome, macrocytosis, epilepsy, hearing loss, retinopathy, mild mental retardation, lymphopenia involving all subsets, and low T-cell receptor excision circles. Folinic acid supplementation is an effective treatment (summary by Ramakrishnan et al., 2016).

COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA; CIMAH Is also known as methylenetetrahydrofolate dehydrogenase 1 deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Sensorineural hearing impairment
  • Anemia


SOURCES: OMIM MENDELIAN

More info about COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA; CIMAH

Top 5 symptoms//phenotypes associated to Immunodeficiency and Pancytopenia

Symptoms // Phenotype % cases
Fever Common - Between 50% and 80% cases
Decreased antibody level in blood Common - Between 50% and 80% cases
Anemia Common - Between 50% and 80% cases
Recurrent infections Common - Between 50% and 80% cases
Splenomegaly Common - Between 50% and 80% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Lymphadenopathy Lymphopenia Hepatosplenomegaly Hemophagocytosis Hepatomegaly Pneumonia Severe combined immunodeficiency Lymphoma Autoimmunity Combined immunodeficiency Aplastic anemia

Rare Symptoms - Less than 30% cases

B lymphocytopenia Intellectual disability Leukopenia Dysgammaglobulinemia Seizures Respiratory tract infection Neutropenia Recurrent otitis media Hypertension Otitis media Sensorineural hearing impairment Neoplasm Hearing impairment Pulmonary infiltrates Lymphoproliferative disorder Immune dysregulation Thrombocytopenia Ascites Leukemia Lymphedema Myeloid leukemia Myelodysplasia Venous thrombosis Colitis Spontaneous abortion Inflammation of the large intestine Acne Bone marrow hypocellularity Hepatitis Pulmonary arterial hypertension Recurrent skin infections Abnormality of the gastrointestinal tract Nephrotic syndrome Hypothyroidism Hypertriglyceridemia Increased serum ferritin Erythema Hypofibrinogenemia Erythema nodosum Folliculitis Irritability Recurrent mycobacterium avium complex infections Acute myeloid leukemia Retinopathy Decreased methylcobalamin Septic arthritis Asthenia Folate deficiency Hemolytic-uremic syndrome Anisocytosis Megaloblastic anemia Antinuclear antibody positivity Thrombocytosis Macrocytic anemia Recurrent urinary tract infections Bilateral sensorineural hearing impairment Metabolic acidosis Pallor Severe sensorineural hearing impairment Arthritis Acidosis Intellectual disability, mild Vomiting Abnormal natural killer cell morphology Postnatal macrocephaly Monocytopenia Chronic myelomonocytic leukemia Severe viral infections Alveolar proteinosis Panniculitis Recurrent fungal infections Verrucae Recurrent viral infections Recurrent respiratory infections Partial albinism Increased head circumference Diarrhea Pleural effusion Hemolytic anemia Failure to thrive secondary to recurrent infections Recurrent opportunistic infections Oral ulcer Decrease in T cell count Increased body weight Inflammatory abnormality of the skin Eczema Cough Skin rash Gastroesophageal reflux Failure to thrive Pericardial effusion Growth delay T-cell lymphoma Impaired T cell function Uveitis Acute lymphoblastic leukemia Recurrent bacterial infections Aspiration Polyhydramnios Edema Kaposi's sarcoma Coombs-positive hemolytic anemia Sarcoma Elevated erythrocyte sedimentation rate Autoimmune hemolytic anemia Biparietal narrowing Global developmental delay Broad forehead Attention deficit hyperactivity disorder Autistic behavior Autism Obesity Midface retrusion Long philtrum Short nose Frontal bossing Macrocephaly Depressed nasal bridge Hypertelorism Iris hypopigmentation Hodgkin lymphoma Hypopigmentation of hair Petechiae Premature graying of hair Hyperlipidemia Nausea and vomiting Jaundice Hypertonia Generalized lymphadenopathy Granulomatosis Histiocytosis Recurrent aphthous stomatitis Stomatitis IgG deficiency Thiamine-responsive megaloblastic anemia


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