Immunodeficiency, and Hemolytic anemia

Diseases related with Immunodeficiency and Hemolytic anemia

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

Top matches:

Combined immunodeficiency due to partial RAG1 deficiency is a form of combined T and B cell immunodeficiency (CID; see this term) characterized by severe and persistent cytomegalovirus (CMV) infection and autoimmune cytopenia.

COMBINED IMMUNODEFICIENCY DUE TO PARTIAL RAG1 DEFICIENCY Is also known as combined immunodeficiency with expansion of gamma delta t cells|cid due to partial rag1 deficiency|cid with expansion of gamma delta t cells

Related symptoms:

  • Anemia
  • Splenomegaly
  • Immunodeficiency
  • Autoimmunity
  • Sepsis


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about COMBINED IMMUNODEFICIENCY DUE TO PARTIAL RAG1 DEFICIENCY

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

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

Other less relevant matches:

Combined immunodeficiency due to CD3gamma deficiency is an extremely rare genetic combined primary immunodeficiency characterized by a selective partial lymphopenia (T+/-B+NK+) phenotype and decreased CD3 complex resulting in a variable but usually mild clinical presentation ranging from asymptomatic until adulthood to high susceptibility to infections from early infancy with predominant automimmune manifestations.

COMBINED IMMUNODEFICIENCY DUE TO CD3GAMMA DEFICIENCY Is also known as scid-like immunodeficiency, t cell-partial, b cell-positive, nk cell-positive|cd3-gamma deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about COMBINED IMMUNODEFICIENCY DUE TO CD3GAMMA DEFICIENCY

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

Combined immunodeficiency due to STK4 deficiency is a rare, genetic combined T and B cell immunodeficiency characterized by T- and B-cell lymphopenia, hypergammaglobulinemia and intermittent neutropenia. It presents with recurrent opportunistic viral, bacterial and fungal infections involving skin (cutaneous papillomatosis, molluscum contagiosum, skin abscesses, mucocutaneous candidiasis), upper and lower respiratory tract or septicemia. Other clinical features include autoimmune manifestations (autoimmune hemolytic anemia) and congenital heart defects (atrial septal defects, patent foramen ovale, mitral, triscupid and pulmonary valve insufficiency).

COMBINED IMMUNODEFICIENCY DUE TO STK4 DEFICIENCY Is also known as mst1 deficiency|cid due to stk4 deficiency|stk4 deficiency

Related symptoms:

  • Anemia
  • Atrial septal defect
  • Immunodeficiency
  • Lymphadenopathy
  • Hemolytic anemia


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED IMMUNODEFICIENCY DUE TO STK4 DEFICIENCY

Idiopathic CD4 lymphocytopenia is a rare primary immunodeficiency disorder characterized by persistent CD4 T-cell lymphopenia (less than 300 cells/µL on multiple occasions) not associated with any other underlying primary or secondary immune deficiency. Patients typically present opportunistic infections (with cryptococcal, mycobacterial, candidal, varicella zoster virus infections and progressive multifocal leukoencephalopathy being the most prevalent), malignancies (mainly lymphoproliferative disorders), or autoimmune disorders. Some individuals are asymptomatic and incidentally diagnosed.

IDIOPATHIC CD4 LYMPHOCYTOPENIA Is also known as icl|idiopathic cd4 lymphopenia

Related symptoms:

  • Neoplasm
  • Anemia
  • Immunodeficiency
  • Pneumonia
  • Carcinoma


SOURCES: OMIM ORPHANET MENDELIAN

More info about IDIOPATHIC CD4 LYMPHOCYTOPENIA

Common variable immunodeficiency-12 is an autosomal dominant primary immunodeficiency characterized by recurrent infections, mainly respiratory, associated with hypogammaglobulinemia. The disorder shows a highly variable age at onset and highly variable disease severity, even within the same family. Some patients have features of autoimmunity (summary by Fliegauf et al., 2015).For a general description and a discussion of genetic heterogeneity of common variable immunodeficiency, see CVID1 (OMIM ).

IMMUNODEFICIENCY, COMMON VARIABLE, 12; CVID12 Is also known as nfkb1 deficiency

Related symptoms:

  • Anemia
  • Immunodeficiency
  • Recurrent infections
  • Thrombocytopenia
  • Alopecia


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY, COMMON VARIABLE, 12; CVID12

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

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

Top 5 symptoms//phenotypes associated to Immunodeficiency and Hemolytic anemia

Symptoms // Phenotype % cases
Autoimmune hemolytic anemia Very Common - Between 80% and 100% cases
Anemia Common - Between 50% and 80% cases
Lymphopenia Uncommon - Between 30% and 50% cases
Autoimmunity Uncommon - Between 30% and 50% cases
Recurrent infections Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Splenomegaly Lymphoma Pneumonia Bronchiectasis Combined immunodeficiency Decreased antibody level in blood Lymphadenopathy Severe combined immunodeficiency Thrombocytopenia

Rare Symptoms - Less than 30% cases

Failure to thrive Inflammation of the large intestine Bronchiolitis Recurrent otitis media Bronchiolitis obliterans Recurrent bacterial infections Immune dysregulation Hepatosplenomegaly IgG deficiency Inflammatory abnormality of the skin Hodgkin lymphoma Sepsis Decrease in T cell count Lymphoproliferative disorder Increased antibody level in blood Pancytopenia Dysgammaglobulinemia IgA deficiency Alopecia Papilloma Opportunistic infection Recurrent sinusitis Bronchiolitis obliterans organizing pneumonia Squamous cell carcinoma Psoriasiform dermatitis Recurrent skin infections Chronic obstructive pulmonary disease Elevated erythrocyte sedimentation rate Recurrent sinopulmonary infections Hemophagocytosis Cerebral palsy Leukoencephalopathy Recurrent pneumonia Recurrent urinary tract infections Abnormal lung morphology Generalized lymphadenopathy Granulomatosis Histiocytosis Hepatomegaly Recurrent aphthous stomatitis Stomatitis Pulmonary infiltrates Pericardial effusion Otitis media Pleural effusion Ascites Fever Sinusitis Ventricular hypertrophy Carcinoma Increased IgM level Abnormal intestine morphology Eczema Malabsorption Recurrent respiratory infections Recurrent mycobacterium avium complex infections Impaired memory B cell generation Ectodermal dysplasia Recurrent gastroenteritis Kaposi's sarcoma Coombs-positive hemolytic anemia Sarcoma Respiratory tract infection Autoimmune neutropenia Interstitial pneumonitis B lymphocytopenia Decreased proportion of CD8-positive T cells Recurrent upper respiratory tract infections Neoplasm Right ventricular hypertrophy Recurrent fungal infections Pulmonary insufficiency Verrucae Recurrent viral infections B-cell lymphoma Chronic mucocutaneous candidiasis Patent foramen ovale Myelodysplasia Neutropenia Atrial septal defect Impaired Ig class switch recombination Absence of lymph node germinal center Recurrent infection of the gastrointestinal tract Autoimmune thrombocytopenia Osteomyelitis Chronic lung disease


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